This course focuses on new discoveries in our understanding of human behaviour, evolution and disease.  The course covers the basic principles that underpin the field of human genetics.  We will explore processes of gene mapping and sequencing that comprise the human genome, and the enormous databases that are being generated from this research.  The course also places a strong emphasis on the moral, ethical and legal issues surrounding the application of genetic technology to the diagnosis, treatment and eradication of genetic disease; these issues will be addressed in the context of genetic testing and genetic counselling.

On satisfying the requirements of this course, students will have the knowledge and skills to:

1. show a high level of proficiency in navigating relevant leterature, web sites and databases and using information from these sources to develop and test hypotheses in the field of human genetics.

2. describe the layout of the human karyotype and explain the karyological nomenclature used to describe chromosomal rearrangements and the locations of chromosomal markers in chromosomes.

3. explain the bahaviour and evolution of the human chromosomes and their involvement in the determination of sex.

4. explain the importance of model species to our investigation of basic principles in human genetics.

5. explain the mechanisms of epigenetic inheritance and the role of imprinting in normal inheritance and in human genetic disease, including cancer.

6. explain the theoretical and practical basis for the use of modern molecular techniques in the diagnosis and treatment of cancer and inherited disease.

7. describe and appreciate the duties, responsibilities and challenges facing professionals whose role is bridging the gap between geneticists and the general public.

8. identify and analyse the ethical issues and dilemmas raised by modern genetic techniques used for screening and fertility treatment in humans.

Assessment is based on:

• Significant research report on an area of human genetics of interest to the student, and ideally relevant to their chosen area of postgraduate study (% negotiated, LO 1-6)
• Take-home assignments of lecture and practical material allow students to monitor their progress throughout the course (optional)
• Final examination to assess students' understanding of the basic principles that underpin the field of human genetics (% negotiated, LO 1-6).  Assessment will examine proficiency in individual research, understanding of the theory and laboratory work.  A sliding scale permits students to focus on areas of interest by designating the weight to be assigned to different items of assessment.

Two to three lectures per week, practicals and tutorials; total workload 55-60 contact hours in semester.

Requires Bachelor degree with knowledge of  genetics at second year level, or postgraduate courses BIOL6006 or BIOL6161 (or equivalent).

There is no prescribed text.  Relevant reading will be given to students during the semester.